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GP1BA Gene Bernard Soulier Syndrome Type A2 Genetic Test

Name: GP1BA Gene Bernard Soulier Syndrome Type A2 Genetic Test
SKU: TEST-3511
Price: 4400 AED
Availability: InStock

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The GP1BA Gene Bernard Soulier Syndrome Type A2 Genetic Test is a specialized diagnostic procedure designed to detect mutations in the GP1BA gene, which are responsible for Bernard-Soulier Syndrome (BSS) Type A2. Bernard-Soulier Syndrome is a rare inherited bleeding disorder characterized by the deficiency or dysfunction of the platelet glycoprotein complex GPIb-IX-V, leading to prolonged bleeding times, thrombocytopenia, and unusually large platelets. Type A2 specifically involves mutations in the GP1BA gene, affecting the production or function of the GPIb alpha chain, a critical component of the platelet glycoprotein complex necessary for normal platelet adhesion and clot formation.

This genetic test is performed at DNA Labs UAE, a facility known for its advanced diagnostic services and precision medicine. The test involves collecting a blood sample from the patient, which is then analyzed using state-of-the-art genetic sequencing technologies to identify any mutations in the GP1BA gene. The outcome of this test is crucial for the accurate diagnosis of BSS Type A2, enabling healthcare providers to tailor treatment plans according to the specific needs of the patient, which may include platelet transfusions, antifibrinolytic medications, or recombinant factor VIIa for bleeding management.

The cost of the GP1BA Gene Bernard Soulier Syndrome Type A2 Genetic Test at DNA Labs UAE is 4400 AED. This cost reflects the comprehensive nature of the test, including the advanced genetic sequencing required to identify the specific gene mutations responsible for the condition. By opting for this test, patients and their families can gain valuable insights into the genetic underpinnings of their condition, facilitating informed decisions regarding treatment and management strategies.

Description

GP1BA Gene Bernard Soulier syndrome type A2 Genetic Test

Components: GP1BA Gene Bernard Soulier syndrome type A2 Genetic Test

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Vascular Diseases

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic DNA Test gene GP1BA

Test Details: The GP1BA gene is associated with Bernard-Soulier syndrome type A2, which is a rare genetic disorder characterized by a deficiency or dysfunction of a protein called glycoprotein Ib-alpha (GPIb-alpha). This protein is important for the normal function of platelets, which are blood cells involved in clotting. NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Bernard-Soulier syndrome type A2, NGS genetic testing can be used to identify mutations or variations in the GP1BA gene that may be responsible for the disorder. NGS genetic testing for Bernard-Soulier syndrome type A2 involves collecting a blood sample from the individual being tested. The DNA in the blood sample is then sequenced using NGS technology to identify any variations or mutations in the GP1BA gene. These variations can help diagnose the condition and determine the specific genetic cause. Genetic testing can be helpful for confirming a suspected diagnosis of Bernard-Soulier syndrome type A2, guiding treatment decisions, and providing information about the risk of the condition in other family members. It can also aid in genetic counseling and family planning. It’s important to note that genetic testing for Bernard-Soulier syndrome type A2 may not be available in all healthcare settings and may require a referral to a specialized genetic testing laboratory. Additionally, the decision to undergo genetic testing should be made in consultation with a healthcare professional who can provide guidance and interpret the results.

Test Name	GP1BA Gene Bernard Soulier syndrome type A2 Genetic Test
Components
Price	4400.0 AED
Sample Condition	Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery	3 to 4 Weeks
Method	NGS Technology
Test type	Vascular Diseases
Doctor	General Physician
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic DNA Test gene GP1BA
Test Details	The GP1BA gene is associated with Bernard-Soulier syndrome type A2, which is a rare genetic disorder characterized by a deficiency or dysfunction of a protein called glycoprotein Ib-alpha (GPIb-alpha). This protein is important for the normal function of platelets, which are blood cells involved in clotting. NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Bernard-Soulier syndrome type A2, NGS genetic testing can be used to identify mutations or variations in the GP1BA gene that may be responsible for the disorder. NGS genetic testing for Bernard-Soulier syndrome type A2 involves collecting a blood sample from the individual being tested. The DNA in the blood sample is then sequenced using NGS technology to identify any variations or mutations in the GP1BA gene. These variations can help diagnose the condition and determine the specific genetic cause. Genetic testing can be helpful for confirming a suspected diagnosis of Bernard-Soulier syndrome type A2, guiding treatment decisions, and providing information about the risk of the condition in other family members. It can also aid in genetic counseling and family planning. It’s important to note that genetic testing for Bernard-Soulier syndrome type A2 may not be available in all healthcare settings and may require a referral to a specialized genetic testing laboratory. Additionally, the decision to undergo genetic testing should be made in consultation with a healthcare professional who can provide guidance and interpret the results.